G elongation factor mitochondrial 1
Última actualización 18 Aug 2020
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El GFM1 gene provides instructions for making an enzyme called mitochondrial translation elongation factor G1. This enzyme is found in cell structures called mitochondria, which are the energy-producing centers within cells. While instructions for making most of the body's proteins are found in DNA that is stored in the nucleus of cells (nuclear DNA), a few proteins and other molecules are produced from DNA that is stored in mitochondria (mtDNA). Mitochondrial translation elongation factor G1 is involved in the production of proteins from mtDNA through a process called translation. The mtDNA genes provide instructions for products that are involved in protein production and the process of turning energy taken in from food into a form that cells can use (oxidative phosphorylation).
Normal function
El GFM1 gene provides instructions for making an enzyme called mitochondrial translation elongation factor G1. This enzyme is found in cell structures called mitochondria, which are the energy-producing centers within cells. While instructions for making most of the body's proteins are found in DNA that is stored in the nucleus of cells (nuclear DNA), a few proteins and other molecules are produced from DNA that is stored in mitochondria (mtDNA). Mitochondrial translation elongation factor G1 is involved in the production of proteins from mtDNA through a process called translation. The mtDNA genes provide instructions for products that are involved in protein production and the process of turning energy taken in from food into a form that cells can use (oxidative phosphorylation).
During translation, mtRNA molecules, which are the protein blueprints created from mtDNA, interact with specialized complexes called ribosomes to assemble protein building blocks (amino acids) into a fully formed protein. The role of mitochondrial translation elongation factor G1 is to coordinate the movements of mtRNA molecules with ribosomes to allow assembly of the protein to continue until it is complete.
Conditions referring to this gene or chromosome
Otros nombres
EFG
EFG1
EFGM
EGF1
G translation elongation factor, mitochondrial
GFM
hEFG1
mitochondrial elongation factor G
mitochondrial elongation factor G1
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Lecturas adicionales y referencias
- G elongation factor mitochondrial 1; MedlinePlus, National Library of Medicine.
- Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum Mol Genet. 2006 Jun 1;15(11):1835-46. doi: 10.1093/hmg/ddl106. Epub 2006 Apr 21.
- Balasubramaniam S, Choy YS, Talib A, Norsiah MD, van den Heuvel LP, Rodenburg RJ. Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. JIMD Rep. 2012;5:113-22. doi: 10.1007/8904_2011_107. Epub 2011 Dec 21.
- Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med. 2004 Nov 11;351(20):2080-6. doi: 10.1056/NEJMoa041878.
- Ravn K, Schonewolf-Greulich B, Hansen RM, Bohr AH, Duno M, Wibrand F, Ostergaard E. Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations. Mol Genet Metab Rep. 2015 Feb 20;3:5-10. doi: 10.1016/j.ymgmr.2015.01.004. eCollection 2015 Jun.
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